A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087349



Internal ID21502460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48601162..48601162hg38UCSC Ensembl
chr17:46678524..46678524hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5651369
Supporting Variants
SamplesNA19239
Known GenesHOXB6, HOXB-AS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087349
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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